Canonical Allele Identifier: CA911023946
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1464026124
gnomAD v3: 3-81649108-A-T
gnomAD v4: 3-81649108-A-T
MyVariant Identifiers: chr3:g.81698259A>T (hg19) chr3:g.81649108A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81649108A>T , CM000665.2:g.81649108A>T GRCh38
NC_000003.11:g.81698259A>T , CM000665.1:g.81698259A>T GRCh37
NC_000003.10:g.81780949A>T NCBI36
NG_011810.1:g.117693T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.556-117T>A MANE Select ENSP00000410833.2:n.556-117T>A
ENST00000429644.6:c.556-117T>A ENSP00000410833.2:n.556-117T>A
ENST00000486920.1:n.552-117T>A
ENST00000489715.1:c.433-117T>A ENSP00000419638.1:n.433-117T>A
ENST00000498468.1:n.84-117T>A
NM_000158.3:c.556-117T>A NP_000149.3:n.556-117T>A
NM_000158.4:c.556-117T>A MANE Select NP_000149.4:n.556-117T>A
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